15051220

Source:http://linkedlifedata.com/resource/pubmed/id/15051220

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Predicate	Object
rdf:type	pubmed:Citation
lifeskim:mentions	umls-concept:C0007634, umls-concept:C0010031, umls-concept:C0014008, umls-concept:C0014257, umls-concept:C0026882, umls-concept:C0035331, umls-concept:C0205161, umls-concept:C0376634, umls-concept:C0392747, umls-concept:C0439825, umls-concept:C1421473
pubmed:issue	4
pubmed:dateCreated	2004-3-30
pubmed:abstractText	To present a previously unreported African American family with 1 variation and 1 mutation of the homeobox transcription factor gene, VSX1 (RINX), and to describe the clinical features of family members.
pubmed:grant	http://linkedlifedata.com/resource/pubmed/grant/EY 06671, http://linkedlifedata.com/resource/pubmed/grant/EY 10608, http://linkedlifedata.com/resource/pubmed/grant/EY 12384, http://linkedlifedata.com/resource/pubmed/grant/EY 13606-01
pubmed:commentsCorrections	http://linkedlifedata.com/resource/pubmed/commentcorrection/15051220-15629844
pubmed:language	eng
pubmed:journal	http://linkedlifedata.com/resource/pubmed/journal/7802443
pubmed:citationSubset	IM
pubmed:chemical	http://linkedlifedata.com/resource/pubmed/chemical/Eye Proteins, http://linkedlifedata.com/resource/pubmed/chemical/Homeodomain Proteins, http://linkedlifedata.com/resource/pubmed/chemical/VSX1 protein, human
pubmed:status	MEDLINE
pubmed:month	Apr
pubmed:issn	0161-6420
pubmed:author	pubmed-author:FrishmanLaura JLJ, pubmed-author:Mintz-HittnerHelen AHA, pubmed-author:MurrayJeffrey CJC, pubmed-author:PragerThomas CTC, pubmed-author:SeminaElena VEV
pubmed:issnType	Print
pubmed:volume	111
pubmed:owner	NLM
pubmed:authorsComplete	Y
pubmed:pagination	828-36
pubmed:dateRevised	2008-11-21
pubmed:meshHeading	pubmed-meshheading:15051220-Abnormalities, Multiple, pubmed-meshheading:15051220-Adult, pubmed-meshheading:15051220-Amino Acid Sequence, pubmed-meshheading:15051220-Auditory Perceptual Disorders, pubmed-meshheading:15051220-Craniofacial Abnormalities, pubmed-meshheading:15051220-Electroretinography, pubmed-meshheading:15051220-Empty Sella Syndrome, pubmed-meshheading:15051220-Endothelium, Corneal, pubmed-meshheading:15051220-Evoked Potentials, Auditory, Brain Stem, pubmed-meshheading:15051220-Evoked Potentials, Visual, pubmed-meshheading:15051220-Eye Abnormalities, pubmed-meshheading:15051220-Eye Proteins, pubmed-meshheading:15051220-Female, pubmed-meshheading:15051220-Genetic Variation, pubmed-meshheading:15051220-Homeodomain Proteins, pubmed-meshheading:15051220-Humans, pubmed-meshheading:15051220-Interneurons, pubmed-meshheading:15051220-Magnetic Resonance Imaging, pubmed-meshheading:15051220-Molecular Sequence Data, pubmed-meshheading:15051220-Mutation, pubmed-meshheading:15051220-Pedigree, pubmed-meshheading:15051220-Retinal Diseases
pubmed:year	2004
pubmed:articleTitle	VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells.
pubmed:affiliation	Department of Ophthalmology and Visual Science, University of Texas-Houston Medical School, 6410 Fannin, Suite 920, Houston, TX 77030-5204, USA. Helen.A.Mintz-Hittner@uth.tmc.edu
pubmed:publicationType	Journal Article, Research Support, U.S. Gov't, P.H.S., Research Support, Non-U.S. Gov't